A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350177



Internal ID15197159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135944927..135946325hg38UCSC Ensembl
InnerchrX:135945325..135945927hg38UCSC Ensembl
OuterchrX:135943927..135947325hg38UCSC Ensembl
chrX:135027086..135028484hg19UCSC Ensembl
InnerchrX:135027484..135028086hg19UCSC Ensembl
OuterchrX:135026086..135029484hg19UCSC Ensembl
chrX:134854752..134856150hg18UCSC Ensembl
InnerchrX:134855752..134855150hg18UCSC Ensembl
OuterchrX:134853752..134857150hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4621e59
Supporting Variantsessv8697489
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350177
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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